Mutagenetix > Incidental Mutation

Incidental Mutation 'R9435:Bpifa1'

713216

Institutional Source

Beutler Lab

Gene Symbol

Bpifa1

Ensembl Gene

ENSMUSG00000027483

Gene Name

BPI fold containing family A, member 1

Synonyms

SPLUNC1, Plunc

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9435 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

153984800-153991137 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 153985843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 53 (A53S)

Ref Sequence

ENSEMBL: ENSMUSP00000028985 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028985]

AlphaFold

P97361

Predicted Effect

unknown
Transcript: ENSMUST00000028985
AA Change: A53S

SMART Domains

Protein: ENSMUSP00000028985
Gene: ENSMUSG00000027483
AA Change: A53S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:LBP_BPI_CETP	83	256	2e-43	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is the human homolog of murine plunc, and like the mouse gene, is specifically expressed in the upper airways and nasopharyngeal regions. The encoded antimicrobial protein displays antibacterial activity against Gram-negative bacteria. It is thought to be involved in inflammatory responses to irritants in the upper airways and may also serve as a potential molecular marker for detection of micrometastasis in non-small-cell lung cancer. Multiple transcript variants resulting from alternative splicing in the 3' UTR have been detected, but the full-length nature of only three are known. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for a knock-out or ENU-induced allele exhibit increased susceptiblity to Mycoplasma pneumoniae infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,382,562 (GRCm39)	D1134E	probably benign	Het
Abca5	C	T	11: 110,182,911 (GRCm39)		probably null	Het
Acp2	A	G	2: 91,036,409 (GRCm39)	T169A	probably damaging	Het
Agtpbp1	A	T	13: 59,622,429 (GRCm39)	N932K	probably benign	Het
Aldh5a1	G	A	13: 25,121,293 (GRCm39)	R87C	probably damaging	Het
Cacna2d2	T	C	9: 107,396,384 (GRCm39)	I667T	probably benign	Het
Catsperg1	T	A	7: 28,889,751 (GRCm39)	T784S	probably benign	Het
Ccdc93	C	T	1: 121,369,584 (GRCm39)	Q109*	probably null	Het
Cd46	C	G	1: 194,767,720 (GRCm39)	D114H	probably damaging	Het
Cd82	A	T	2: 93,267,740 (GRCm39)	L19Q	probably damaging	Het
Celsr1	T	C	15: 85,806,535 (GRCm39)		probably benign	Het
Cnksr1	A	G	4: 133,961,885 (GRCm39)	I180T	possibly damaging	Het
Drg2	T	C	11: 60,358,966 (GRCm39)	V362A	probably benign	Het
Eef2	T	A	10: 81,014,994 (GRCm39)	M231K	probably benign	Het
Egr2	T	C	10: 67,375,628 (GRCm39)	Y75H	probably damaging	Het
Exoc6	A	C	19: 37,585,545 (GRCm39)	Q473H	probably benign	Het
Focad	T	A	4: 88,267,076 (GRCm39)	M1029K	unknown	Het
Fpr-rs4	T	A	17: 18,242,391 (GRCm39)	S133T	probably benign	Het
Gbf1	T	C	19: 46,268,432 (GRCm39)	V1322A	probably benign	Het
Gm572	T	C	4: 148,752,966 (GRCm39)	S282P	possibly damaging	Het
Gm7579	GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG	GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG	7: 141,765,782 (GRCm39)		probably benign	Het
Golph3l	T	C	3: 95,496,369 (GRCm39)	V31A	probably benign	Het
Iars2	A	T	1: 185,034,913 (GRCm39)	V610D	probably damaging	Het
Igsf6	T	A	7: 120,666,472 (GRCm39)	I203F	probably damaging	Het
Ildr2	A	G	1: 166,136,691 (GRCm39)	Y510C	probably damaging	Het
Iqcf4	C	A	9: 106,445,652 (GRCm39)	R165L	possibly damaging	Het
Itgb1bp1	T	G	12: 21,320,943 (GRCm39)	I183L	possibly damaging	Het
Itgb4	A	C	11: 115,895,855 (GRCm39)	S1414R	probably benign	Het
Kbtbd7	G	T	14: 79,664,944 (GRCm39)	A259S	probably benign	Het
Kif14	T	A	1: 136,401,174 (GRCm39)	D508E	possibly damaging	Het
Klc2	A	T	19: 5,159,662 (GRCm39)	D484E	possibly damaging	Het
Lamc2	T	C	1: 153,013,072 (GRCm39)	S630G	probably benign	Het
Myl6b	G	A	10: 128,331,066 (GRCm39)	T125M	possibly damaging	Het
Nbea	T	A	3: 55,943,309 (GRCm39)	K655N	possibly damaging	Het
Nkx3-2	T	C	5: 41,919,493 (GRCm39)	D165G	probably benign	Het
Npy	A	T	6: 49,804,481 (GRCm39)	R67S	probably damaging	Het
Nrg3	A	T	14: 39,194,556 (GRCm39)	C68S	possibly damaging	Het
Nup160	C	T	2: 90,560,138 (GRCm39)	P1288S	probably damaging	Het
Or52e15	T	C	7: 104,645,946 (GRCm39)	H55R	probably benign	Het
Or8g33	A	G	9: 39,337,506 (GRCm39)	L287P	probably benign	Het
Pam	T	A	1: 97,822,144 (GRCm39)	I287L	probably benign	Het
Phf10	T	C	17: 15,165,387 (GRCm39)	R490G	probably benign	Het
Prim2	T	C	1: 33,523,876 (GRCm39)	Y345C	probably damaging	Het
Ptchd3	C	T	11: 121,721,646 (GRCm39)	A173V	probably benign	Het
Rab8b	G	A	9: 66,755,912 (GRCm39)	R167W	probably damaging	Het
S100a3	A	G	3: 90,509,502 (GRCm39)	E49G	probably benign	Het
Slc41a1	T	A	1: 131,766,896 (GRCm39)	V138E	probably damaging	Het
Slit1	C	A	19: 41,591,764 (GRCm39)		probably null	Het
Sntg1	T	A	1: 8,433,814 (GRCm39)	H479L	probably damaging	Het
Stam	T	A	2: 14,120,801 (GRCm39)	C72S	probably damaging	Het
Sval2	G	T	6: 41,840,795 (GRCm39)	A93S	probably benign	Het
Tas2r103	T	A	6: 133,013,686 (GRCm39)	K127*	probably null	Het
Trank1	C	T	9: 111,193,890 (GRCm39)	T638M	probably benign	Het
Utrn	T	A	10: 12,519,173 (GRCm39)	I2260F	probably damaging	Het
Zfp268	G	C	4: 145,349,045 (GRCm39)	E161Q		Het
Zfp280d	T	C	9: 72,226,599 (GRCm39)		probably null	Het

Other mutations in Bpifa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01154:Bpifa1	APN	2	153,985,920 (GRCm39)	missense	probably benign	0.02
IGL03065:Bpifa1	APN	2	153,989,562 (GRCm39)	missense	probably damaging	1.00
R0226:Bpifa1	UTSW	2	153,987,977 (GRCm39)	missense	probably benign	0.03
R1946:Bpifa1	UTSW	2	153,987,554 (GRCm39)	missense	probably damaging	1.00
R1986:Bpifa1	UTSW	2	153,986,256 (GRCm39)	missense	probably damaging	1.00
R5608:Bpifa1	UTSW	2	153,989,495 (GRCm39)	intron	probably benign
R5868:Bpifa1	UTSW	2	153,985,796 (GRCm39)	missense	unknown
R6122:Bpifa1	UTSW	2	153,985,892 (GRCm39)	missense	probably benign	0.11
R6297:Bpifa1	UTSW	2	153,986,180 (GRCm39)	missense	probably benign	0.01
R6315:Bpifa1	UTSW	2	153,987,996 (GRCm39)	missense	possibly damaging	0.48
R6965:Bpifa1	UTSW	2	153,987,581 (GRCm39)	missense	probably damaging	1.00
R8154:Bpifa1	UTSW	2	153,987,654 (GRCm39)	missense	possibly damaging	0.47
R8183:Bpifa1	UTSW	2	153,988,039 (GRCm39)	missense	possibly damaging	0.91
R9214:Bpifa1	UTSW	2	153,985,789 (GRCm39)	missense	unknown
R9221:Bpifa1	UTSW	2	153,988,052 (GRCm39)	missense	possibly damaging	0.63
X0017:Bpifa1	UTSW	2	153,988,071 (GRCm39)	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- CTGATAGCTGTACCATAGAGAACTTG -3'
(R):5'- TGCCTTCCTGGTATTGCGAG -3'

Sequencing Primer
(F):5'- AGAGAACTTGTCATTCTGTCTGCAG -3'
(R):5'- TGCGAGATTGGATATACTCAAGCAC -3'

Posted On

2022-05-16